Advanced genetic diagnostic testing for each syndrome may be found on the Genetests™ web site (www.genetests.org). The infrastructure to refer patient samples for specific imaging and biochemical analysis is not yet in place, but most bleeding disorders treatment centers will have local or reference laboratories that may be useful for analysis of granule defects, glycoprotein receptor expression, or more advanced protein biochemistry.
Rare Coagulation Disorders Resource Room, an extension of the RBDD Registry (eu.rbdd.org), was developed in collaboration with the Indiana Hemophilia & Thrombosis Center (www.innovativehematology.org).
The Resource Room serves as a platform to promote international collaboration to increase knowledge of these very rare disorders and to improve the care of affected individuals. The international RBDD mission, under the leadership of Dr. Peyvandi, will continue to be expanded over time.
The Resource Room thanks all contributing authors of the website articles that have made this valuable information available to the global community of both individuals affected with rare coagulation disorders and their healthcare providers.
